Associated Papers
Characterization of Novel Variants in P2YRY12, GP6 and TBXAS1 in Patients with Lifelong History of Bleeding.
Zamora-Cánovas A et al.
Biomolecules, 2025
41463295 (PubMed )
Supplement: biomolecules-15-01639-s001.zip › biomolecules-3972089-supplementary.pdf
Molecular Pathogenesis of Inherited Platelet Dysfunction.
Rodríguez-Alén A et al.
Biomolecules, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.
Nurden P et al.
Haematologica, 2021
Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.
Saes JL et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Heterozygosity for P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog.
Flores RS et al.
Veterinary Clinical Pathology, 2017
P2Y₁₂ receptor gene mutations associated with bleeding.
Scavone M et al.
Platelets, 2017
Inherited dysfunctional platelet P2Y12 receptor mutations associated with bleeding disorders.
Lecchi A et al.
Hamostaseologie, 2016
Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.
Leo VC et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors.
Jones ML et al.
Thrombosis and Haemostasis, 2015
Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis.
Lecchi A et al.
Blood, 2015
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP
Molecular defects of the platelet P2 receptors.
Cattaneo M
Purinergic Signalling, 2011
Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study.
Daly ME et al.
Blood, 2009
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